Our genes are responsible for the production of proteins, the basic building blocks of our bodies. Our genes are composed of two regions called exons and introns, only the information contained in exons is used. The general term for the combination of all exons is called “exome”. The test that only looks at the exome of our DNA is therefore called WES (Whole Exome Sequencing), while the test that looks at the whole gene is called WGS (Whole Genome Sequencing).
With the WES study, 20,000 protein-coding genes in our DNA are screened for mutations that can cause disease, affect quality of life or be asymptomatic and may pass on to the next generation. The mutations detected, if any, are combined with the patient’s complaints and interpreted to be used as a diagnostic tool.
If a mutation is detected that may cause disease or affect quality of life, a genealogical study may be requested after the test. Thanks to this study, the detected mutation can also be analyzed in other members of the individual’s family, enabling the mechanism of inheritance to be understood and allowing early diagnosis to be made in the analyzed individuals.
WES and WGS studies are frequently used in the field of pediatrics because they provide benefit especially in the early stages. WES/WGS is also very useful in complex, multigenic and unexplained diseases. It is mostly preferred in gynecology, cardiology, endocrinology, rheumatology and neurology.
Analyze variants are also applied for “healthy living” consultancy. The analyze offers information such as cancer predisposition or lactose intolerance. It also offers data about the oxygen cycle, vitamin, glucose and drug metabolism and contribute to correctly positioning the individual in the fields of sports and nutrition.
As it is all our tests, free genetic counseling is provided after our WES/WGS studies. The results are periodically re-examined according to the renewed genomic data, and in case of any changes in the diagnosis, we contact the person again.